BHD Community Symposium 2024

Every year the BHD Foundation hosts a symposium. This year we wanted to focus on the patient community needs. The BHD Community Symposium was held online on the 12 October 2024. To shape content, we engaged with the BHD patients we support as the BHD Foundation. Several needs came to view; support in living with BHD, research and clinical updates, and connecting with the BHD community.

The symposium began with a research update. We heard from Dr Emma Woodward, a clinical geneticist from Manchester Centre for Genomic Medicine, UK. Dr Woodward worked alongside the BHD Foundation on the European Reference Network’s clinical guidelines on diagnosis and management of BHD. This is a landmark piece of work we are proud to be part of. You can read more about the guidelines here, including a plain language summary.

BHD Research Update

We were joined by Professor Rob Wolthuis of the VUMC Amsterdam, Netherlands. Professor Wolthuis gave an update on his project funded by the Myrovlytis Trust called Using Pooled Genome-Wide Lentiviral CRISPR Screens to Uncover Druggable Targets and Chemical Enhancers of Belzutifan for the Specific Treatment of Renal Cell Carcinoma in Birt-Hogg-Dubé Syndrome.

We were then joined by Professor Bryndis Yngvadottir of the University of Cambridge, UK. Bryndis presented the findings from the grant funded by the Myrovlytis Trust called Determining the prevalence of pathogenic FLCN variants from large genomic registries. The project outcome for this grant is awaiting publication with the results due in Spring 2024.

BHD and Families

In the breakout BHD and Families session, the BHDF Health Information and Engagement Manager Rachel was joined by genetic counsellor Kristen Pauley, MS, LCGC. Kristen works regularly with BHD patients and their families in the Huntsman Institute, University of Utah.

Kristen gave a talk about what genetic counselling is, how she works to support BHD patients in testing and diagnosis of BHD, and about family planning when one or more parents have BHD.

We then heard from a BHD patient advocate Elizabeth who shared her BHD diagnosis story as well as how she felt finding out her adult daughter had also been diagnosed with BHD. Kristen discussed how to have these conversations with family members, and Elizabeth shared that her much wider family seemed uninterested in getting a genetic test for BHD. Kristen, Elizabeth and Rachel discussed why this may be. Feeling that a genetic test for BHD was unimportant or that they had no noticeable symptoms could be a reason why.

Newly Diagnosed

For our newly diagnosed session we welcomed Dr Marston Linehan of the NIH, USA. By studying patients and families with kidney cancer, he and his colleagues identified the VHL gene (von Hippel-Lindau and clear cell renal carcinoma), the gene for Hereditary Papillary Renal Carcinoma (MET oncogene, type I papillary renal carcinoma) the FLCN gene (Birt Hogg Dubé syndrome, chromophobe renal carcinoma), the gene for TFE3 kidney cancer and described the germline fumarate hydratase and succinate dehydrogenase B/C/D mutations in the North American families with hereditary leiomyomatosis renal cell carcinoma (HLRCC) and SDH-RCC and described five new diseases. Dr Linehan gave an overview of the history of BHD, the common symptoms, management of the condition and offered the opportunity for those newly diagnosed to ask questions about BHD.

Living well with BHD

For our Living well with BHD session we welcomed the non-profit organisation Rare Minds, who work to support wellbeing in the rare disease communities. They particularly provide psychosocial support for those living with rare disease – an area which can be lacking in mainstream medical care for BHD.

Rebecca Hargreaves from Rare Minds gave a talk on living well with BHD. Firstly we looked at the link between mental wellbeing and physical health. We also talked about how many people living with a rare condition feel their mental wellbeing needs are not met and that mainstream therapists don’t fully understand their needs. Rebecca then shared ways to support our own wellbeing especially living with uncertainty about your health when living with BHD, for example the anxiety of not knowing when you may experience a pneumothorax (punctured/collapsed lungs). The session was about being proactive in managing your own health and wellbeing and was very well received.

After a short breakout room session for a Q&A with four BHD clinicians, we had a short session from Rebecca at Rare Minds about supporting yourself in medical appointments. There were tips to manage the feeling about multiple medical appointments you have as a rare disease patient especially the need to be an expert patient.

Hearing from BHD specialist clinicians

The final part of the symposium was focused on hearing from BHD specialist clinicians. We had a ‘clinical update’ briefing session from four specialists who work with BHD patients. They gave their latest clinical methods of managing BHD followed by a panel discussion with Dr Marston Linehan from the National Institute of Health in the USA. We had some audience questions and was a great opportunity to have clinicians and patients in the same space and interacting. BHD patients rarely have a room of experts to discuss their experiences with and we were excited to facilitate this. The experts were:

• Dr Marston Linehan, Chief of the Urologic Oncology Branch at the National Cancer Institute in the USA.
• Dr Emma Woodward, Consultant Clinical Geneticist at Manchester University NHS Trust and Honorary Senior Clinical Lecturer at the University of Manchester in the UK.
• Prof Neil Rajan, a principal investigator and honorary consultant dermatologist based in Newcastle, England
• Prof Cormac McCarthy, an Associate Professor of Medicine at University College Dublin and Consultant Pulmonary Physician at St Vincent’s Hospital Group, Dublin
• Dr Mark Ball, an attending surgeon in the Urologic Oncology Branch of the National Cancer Institute and Associate Program Director of the Urologic Oncology Fellowship Program. 
• Katie the COO for the Myrovlytis Trust gave a brief overview of the BHD BIRT registry before closing the session.

Katie explained that for the first time the foundation has access to data from the BHD BIRT registry. She highlighted some of the statistics that have stood out for the foundation. Katie encouraged people to complete the registry so we can expand on the information we have to date, with the overall aim of being able to share data with researchers in the coming years.

Closing sentence

The 2024 BHD Community Symposium was our most popular event to date, with over 260 people registering for the event. The increase of attendees year on year shows the appetite those with BHD, and those who support them, have in finding out more about the condition and how to manage it.

The team have reflected on the brilliance of being able to gather world leading experts in a room and for patients to directly ask questions to them. And as equally important for the professionals to hear from patients to understand the impact BHD has on their day to day lives.

Feedback on Rare Minds has been great. It highlights peoples genuine concern they have for their own mental health and the toll of having a rare disease can have on their state of mind.  It is so important to empower patients so they feel comfortable to educate others about BHD to reduce the isolation and anxiety having a rare disease can create.

We are grateful for every person who contributed to this year’s event. From patients, to clinicians, to researchers, to external parties who participated.

The feedback form remains open until the end of November 2024 and can be completed by visiting https://bit.ly/4dsGqp3

We look forward to hosting the next symposium in 2025!